Found: 18
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SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 543, doi. 10.1159/000524844
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- Publication type:
- Article
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2490, doi. 10.3390/ijms24032490
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- Publication type:
- Article
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2316
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- Article
Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1278
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- Publication type:
- Article
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1064
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- Publication type:
- Article
Double somatic mosaicism in Cornelia de Lange syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63512
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- Article
Rock around DYRK1A: Ethnic diversity, clinical challenges.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1459, doi. 10.1002/ajmg.a.63140
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- Publication type:
- Article
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2867, doi. 10.1002/ajmg.a.40635
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- Publication type:
- Article
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2069, doi. 10.1002/ajmg.a.36588
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- Publication type:
- Article
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond‐like syndrome.
- Published in:
- British Journal of Haematology, 2020, v. 189, n. 4, p. e171, doi. 10.1111/bjh.16585
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- Publication type:
- Article
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Publication type:
- Article
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 12, p. 674, doi. 10.1002/bdr2.2065
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- Publication type:
- Article
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168501
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- Article
A Child With Ichthyosis and Liver Failure.
- Published in:
- 2017
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- Publication type:
- journal article
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1493, doi. 10.1002/pd.6204
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- Publication type:
- Article
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 562, doi. 10.1002/humu.22784
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- Publication type:
- Article
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.
- Published in:
- Genes, 2024, v. 15, n. 6, p. 654, doi. 10.3390/genes15060654
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- Publication type:
- Article
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1275, doi. 10.3390/genes13071275
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- Publication type:
- Article